World Rare Disease Day is February 28th. People all over the world will work to raise funds and awareness for over 7,000 Rare Diseases worldwide. In our house things are buzzing, as we prepare to teach the world a bit more about Cowden’s Syndrome.

There will be so much time to write. Soon. Right now we are preparing for Rare Disease Day 2017 and “Jeans for Rare Genes 3.” All the preparing brought me back to her video from last year. And then I looked at the year before, and the one before that. And I was struck by how much she has grown, not only in her technological ability, but also as an advocate, and a voice, and a human.

There will be no video this year. It was time for a change of pace. But, I thought it appropriate to post these here, now. She keeps me grounded…

I catch the judgments when I mention PTSD to even those closest to us.

I have the utmost respect for our military, and our servicemen and women. They are the front lines, defending us and keeping us safe. They experience horrors I could not imagine, and I am daily grateful for them. The PTSD many suffer is real and no one would ever question it.

But, just as l know that their’s is real, I am that sure it is real in my house too.

Post Traumatic Stress Disorder does not stipulate the trauma.

Some days I try to ignore it. I try to hide it. I try to work around it. I try to pretend it’s not there. I try to lean into the pressures of well-meaning friends and acquaintances alike that we should act “normal” so as not to marginalize ourselves. I hear the logical statements about fitting in. I hear them.

We talk about “everyone has something.” We are acutely aware that we are not the only ones that suffer. We are aware of our blessings. We share those blessings with others when we can. We listen compassionately. We are believers in the notion that, “If we all threw our problems in a pile and saw everyone else’s, we’d grab ours back.”

We are aware that we can be perceived as aloof, or detached, or disinterested. We are also aware that largely by circumstances and partly by our own design, we are alone. We haven’t really ever spoken to you about why… We try to listen compassionately. We try to be the people you need. We try to be lighthearted and positive when we feel like we are being crushed.

When the diagnosis of PTSD was first given to me as part of an analysis of my beautiful daughter’s response to the constant traumas that had shaped her life, I was physically ill. And then I was really sad.

And through the years I have tried to wish it away. I have tried to convince and cajole and distract. I have tried to rationalize. I have tried to blame myself. I have tried to be angry. I have tried to pray. I have tried to walk it off. I have tried to medicate it.

I have brought her to quality therapy. I have introduced medication. We have tried strategies. We have tried simple grit. We have never quit. And there is progress. But it is not easy.

I’ve been home a few weeks now with a foot that won’t heal. I am trying to put into play some things that have been on the back burner for too long. I am rediscovering my faith, and leaning back into the peace that has anchored my soul for so long. I am learning new things, like the operating system on a new computer. I am trying to find value in the waiting to heal.

I have also had some time to watch some old home videos, transferred from the portable video camera that was state of the art when our only child was born in 2003.

I look at some of those old videos and I laugh and smile. And I hear the purity and innocence of a life untouched by physical and emotional pain, and the cruelty of the loneliness that often surrounds both. And I laugh in spite of myself while the tears stream down my face.

We are strong. We are determined. We are compassionate. We are intense. We expect a lot from those around us, because we expect a lot from ourselves. We are often isolated, marginalized, and left to live on the edge of all things social.

PTSD, the elephant in every room.

You see the diagnosis of Cowden’s Syndrome was not the start of it. The first medical intervention was before the age of 6 months…

The years of hospitalizations, immune deficiency, chronic illness, food allergies, constant GI upset, speech, OT and PT services, led right into one surgery after another, with scans, doctors visits, and a few emergency room trips sprinkled in. There were arrogant doctors and medical staff, ignoring that we were literally walking through fire trying to survive. There were teams that would not communicate, and problems we had to try to solve on our own. There were well meaning people in our lives asking if she was “better” because they could handle nothing other than a positive in the midst of this crazy, wild storm we were living in.

The diagnosis at the age of eight formalized the fact that we were definitely different. It gave an answer while raising more questions and increasing the isolation, as parents scheduled play dates with children who became friends while we rode the FDR drive for hours after a day of work and school. They went to the mall, or to the movies while we headed to PT to bring that knee back from surgery 4,5,6,7,8…. It was inevitable that the divide would grow.

I told her she could do anything. And I meant it. I still mean it.

She is academically rock solid. She is an athlete. She is a good friend to those who let her be. She is thirsty for knowledge. She is insatiable in her desire to make the world better.

She’s also angry. And its hard to see it. It’s hard to feel it, and to watch it. But, it’s real. And it’s valid. As much as we were able to do for her, the basic joys of childhood were taken from her. From colic, to hospitals, to bullying so severe it almost broke her, to being just outside the edge of every circle or group… A week in Disney every year helps, but even the Mouse doesn’t have a bandaid big enough.

We stay busy. It is the best way. But sometimes it breaks down. This has been an extra tough week. There isn’t one reason why. It just is sometimes.

As I sat with her the other night and the memories of the most traumatic surgery turned my strong young lady back into a terrified 10 year old, I was reminded. PTSD is very real.

It is real when the medical world is overwhelming you.

It is real when the pain is chronic.

It is real when the thought of getting out of bed is just too much.

It is real when you need the dog close by to even close your eyes.

It is real.

It is also real when you’re the youngest NYS Woman of Achievement in 2016 at the age of 12, or being honored with a Humanitarian Award at 15.

It is real when you’re holding a 3.9 GPA.

It’s real when you are achieving best times at Junior Olympics.

It’s real when you’re laughing with your high school swim team.

It is real when you’re in costume on the stage.

It’s just flat out real. And most of the time you have no idea what it looks like. The costume is better than Broadway. The mask is strong, crafted through years of survival instinct.

It never goes away, and yet it takes over without notice at the most inconvenient times.

PTSD is not an indicator of weakness, but rather of strength. For living with it means you could have given up, but you are pressing on instead.

I’ve passed this advice to parents through the years who are new to our diagnosis.

“It is a lot to handle.”

Don’t underestimate.

It is hard to be kind to those who are different. It is hard to be with people who are sometimes just “a lot.” It is hard to care.

But the reality really is you just don’t know. You don’t know the struggles facing anyone you pass by on the street. You have no idea.

It’s neither a contest, nor a competition.

We are not perfect. It is harder when the hurt is in its most raw periods.

But, we have goals. And perhaps they go back to the “Golden Rule” of my youth. “Do unto others as you’d have them do unto you.”

That means you keep paying it forward, without expecting it to be repaid to you.

If we all, ourselves included, can remember that everyone has real struggles, and we can all focus on kindness, I’m pretty sure we can start real change.

One smile, one inclusive invitation, one held door, one kind gesture at a time.

“Be kind always, because everyone you meet is fighting a battle you know nothing about.”

When we started this journey I never would have chosen this path for you. I never would have selected a life of hospitalizations, tests, rare diseases and pain. I would have chosen an easy life for you. But, I didn’t get to choose.

And, maybe that’s better. Don’t get me wrong. Everything that you have endured is overwhelming. I wish I could take it away. But, this adversity and these struggles, they have guided you as you have become a young woman I could not be more proud of.

This has been a twisty and winding road, and we are still only at the beginning.

Since you were very young you have had an unimaginable determination to accomplish whatever you set your mind to. You never cease to amaze me.

From the days of Early Intervention and CPSE Speech/OT and PT, you just never quit.

You decided early on that you would do well in school. And you exceed any expectation I’ve ever had. You continue to seek classes because you genuinely want to learn new things. You want to be your best self.

You have always had the heart of an athlete. You tried every sport you could and constantly had to reroute due to pain. Then, you landed in the pool. The pain there is pain you can manage. You are continuing to set, meet, exceed and reset goals. Despite some seemingly insurmountable physical obstacles, you are an athlete.

You are deeply principled, a trait that has made you the young woman you are becoming. It also makes me want to scream out loud some days. Sometimes balancing socially was a struggle. You look for the good. You make your decisions based on the heart of the people you are with. You would not compromise your beliefs. You had patience. You have friends now who love you for being “fiercely yourself.”

You have faith. You believe in a God who loves us all. You believe in GRACE and forgiveness, and even though you haven’t had a traditional church upbringing, I am proud of the questions you ask, and your desire to learn. I am mostly proud of your heart.

Every day you are growing, stronger, wiser, and more confident. Every day you are seeking out ways to improve. You are constantly reflecting and growing.

No one outside of our home can fully understand this journey. And while having TWO rare diseases I think may give us magical unicorn status or something, there is no one I’d rather have to traverse these trails with.

I could go on forever. My heart spills over with love when I think of the young woman you have become. I am full of anticipation and excitement about where the journey will lead you.

Know that forever and for always I will always be your biggest cheerleader and your most vocal advocate. Know that I love you to the moon and back times infinity. FOREVER!

Remember – sometimes we don’t get to pick our path. Yet, if we open our hearts we can make the bumpy roads the most meaningful.

I love you more – ALWAYS

Happy Sweet Sixteen! Enjoy the day!

xoxo

Mom

And if you’ll take a bit of motherly advice – most of it can be found in these three songs….

A new diagnosis came our way this week. On top of the existing one. I have wavered between frustration and relief. I have felt some questions answered and developed a lot of new ones. My girl got her words together before I did…

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My name is Meghan. I am a 15 year old high school student. I just finished my second year of high school in a place I love. I am an A+ student, who loves to learn. I am in all honors classes. I strive to learn and grow as much as I am able. I live, laugh and love. I hang out with my friends. I lay outside and tan. I take my dog for walks. I swim for a competitive travel team where I work my butt off in the water 6/7 days in a week. I improve. I grow. I train. To anyone who only knew me superficially, it’d seem like I was living the dream. I’ve got a couple close friends, good parents, a nice house, a dog who loves me. It’s perfect. Right? Wrong.

Here’s the other side of my life most people don’t know; I’ve got some shitty genetic luck. Because on the inside, I am far from an ordinary high school student with the perfect house and parents.

I was diagnosed with my first- yes that’s right, my first- rare genetic disorder when I was eight years old. By then I’d already had so many surgeries it was hard to keep count, and a bunch of random medical problems that never seemed to add up. That disorder is Cowden’s Syndrome. It’s a mutation on the PTEN gene that causes benign and malignant tumors, increasing cancer risks and letting things pop up all over my body that hurt like a mother.

I’ve lived with this disorder my entire life. Hospitals, waiting rooms, specialists, MRI’s, and every other extremely uncomfortable medical situation you can think of became my life. To date, I’ve had 18 surgeries, multiple procedures, over 30 hospital visits, and 25+ MRI’s that have put wayyyy to much metal into my body. From countless medical traumas I’ve developed PTSD, anxiety, and depressive disorders. What doesn’t help that is the fact that I’m always in pain. I fight every damn day. I fight to live my life, and to get my body to the levels that others can reach with half the effort.

Now here’s the best part, so I’ve got a crazy smart mom, who wouldn’t stop poking around to figure out the other piece to this puzzle. Because, we both knew Cowden’s wasn’t it. There was something more, because this debilitating chronic pain in a relatively healthy 15 year old, plus other random symptoms that just didn’t add up, had to come from somewhere. So, we went back to my geneticist. And, guess what? We BOTH got our SECOND rare genetic diagnosis. hEDS( the hyper mobile sub type of Ehlers-Danlos Syndrome). Fun, right?

I know it’s a lot to write at once. It may seem crazy to anyone else who lays eyes on this post. But guess what? One very valuable life lesson I’ve learned from living this life is to stop giving so much of a damn what other people think.

We don’t post the awful pictures. We leave out the ones where we look less than our best. Social media allows us to live in the delusion that everyone’s life is “perfect.”

I’ll be the first to admit the ugly truth. It’s far from perfect. It’s not neat or clean. There is no bow. And yes, most of the time I do delete the awful ones. Those images and experiences are seared into my soul.

I prefer to go with the theory that the body forgets pain… At least your own. It’s how we survive. But, if you live watching a loved one in pain – you know the memory will not slip even a tiny bit. If you hold your child as they cry out in pure agony, or when they are weak from fever, you can remember where you were each time. If you watch your teen wince simply through a series of steps, or check to make sure they are breathing as they sleep the better part of two or three days at a clip – you don’t forget.

Recently, Meghan was in a production of “Beauty and the Beast Jr.” with the Staten Island Children’s Theater Association, Inc. She loves the experience of working with a theater group and has been with this one a few years now. It is such an enjoyable time in her life. She spends months of Saturdays with genuine quality people preparing for the show.

Meghan as “Madame de la Grande Bouche”

And during those same months she is thriving academically.

And training for swimming.

And making regular appointments, routine, follow-up, and therapy.

And contending with seasonal allergies that are nothing less than relentless.

And, she is, every single day a person living with Cowden’s Syndrome and the effects it has on her, both physically and emotionally.

The show was almost 2 weeks ago. It took me a little bit to get my thoughts together.

I think I have it now.

Living with chronic illness, chronic pain, chronic life altering physical ailments, is in some ways similar to putting on a production.

You set your sights on what you want to accomplish – large or small. In some cases it’s going to a party, and in other’s it’s going to the backyard. But, you plan for it. You practice it. You consider every detail. You may have to select the right costume and even stage it so you don’t sit or stand for too long. You know just what your body can do and there is a short window where you have to make it all work.

The rest of the time you are backstage.

You are in pin curls and shorts with a tank top.

You are rubbing your feet. You don’t have make-up. Backstage and rehearsals, these are what life is made of. But, we don’t take the camera out while we are there.

Everyone’s preparation is different. I can only write about ours and confidently say everyone has some level of preparation before the “show”. Some people make it onto the stage more often than others. Some people have fewer performances, but make them count as much as they can. Those people take nothing for granted because they have no idea when they will step out into the “stage” again.

That’s what social media looks like to me, anyway. Every picture is on the stage. Some have more than others. But, because of the world we live in it is easy to judge based on what we see without considering what we DON’T see.

The night of the show Meghan went to the diner with her friends. She got home close to midnight. It was Sunday, and a school night, and I had already decided she’d stay home the next day. It wasn’t a reward. It was a necessity. The amount of energy her body had expended could not be recovered quickly. She slept until 2pm the next day, and was asleep again by 9.

I sent her to school that Tuesday – ready to roll. She swam at 5am, did a full day of school, an hour of physical therapy and another 2.5 hours of swim practice.

Probably not the best plan.

The physical therapy is in place to try to strengthen her overall. Joint laxity, ligaments subluxing… all sorts of cracking, popping and shifting. The search for answers is on, but in the mean time we do PT…

By Wednesday she couldn’t move. She made it to school – barely.

Her IEP meeting was that afternoon, and we had lengthy conversations about all sorts of physical and emotional needs relating to school. We also spoke at length about the service dog we are in a holding pattern waiting for, and how he will fit in to the big picture. So many questions…

Thursday we got in the car to go to school. By 7:30 I had her back in her bed. She just could not. She slept until early afternoon Thursday, followed it with and early bedtime and slept again until early afternoon Friday. There was a little less sleep as the days went on but it was a slow process.

The show that was so incredibly worth it in every way – cost her a full week in recovery time. Her body hurt so deeply. This is not an out of shape child. This is a person living with a chronic pain and illness that is affecting her body in ways not even the doctors fully comprehend yet.

But I didn’t post pictures of her wincing in agony, or sleeping for days.

To the outside world she doesn’t look sick. She’s 5 foot 8, full of muscle and extremely well-rounded.

She works hard at it.

Some days are easier than others. But every day she works. She is fierce and relentless and she does not quit.

Next time you catch a photo of her smiling or singing in a pretty dress know that it took a lot of staging to pull that off, and there will likely be a lot of recovery on the back end.

But, she wouldn’t have it any other way. Not for a moment. She is my inspiration to remain…

The call came to my cell phone on a Friday afternoon a few weeks ago. It took me a few minutes to process that Sharon from the Teddy Atlas Foundation was telling me Meghan had been selected to receive the Dr. Theodore A. Atlas Humanitarian Award. The award is named for a local physician who epitomized the concept of what it meant to be a physician through more than a half century of people centered care on Staten Island.

I knew of Dr. Atlas, who did most of his work before my time, because I followed the work of the foundation, started by his son, Teddy Atlas Jr. The Dr. Theodore A. Atlas Foundation is a name known to locals who are inspired by stories of people helping people. I had watched this foundation through the years, grateful that people who genuinely want to help are not afraid to just do it.

I know I stumbled, and may have sounded like a bumbling fool as I asked her to repeat herself. “Yes,” Meghan will accept gratefully, I replied without asking. I was given the date and time for the dinner.

I’m not sure either of us really grasped the enormity of the honor until we looked up the event on line.

We had just struggled to get 100 people in a room for a fundraiser. Here they were looking at close to a thousand – from big names to community favorites.

When she learned she’d need to give a brief acceptance speech, she took a deep breath, and then thought. A whole lot.

We talked about humanitarian, as a word and as a concept. The more we bounced it around, the more we both knew the concept suited her. Meghan has always wanted to make a difference. She has always done what she can to speak for those who can not speak for themselves. She is not sure what her future career will be, but she is sure that she must know she is ‘helping.’

We talked about quotes. I gave a few suggestions. She came back to me with Dr. Seuss. She nailed it. As usual.

The Lorax speaks for the trees. They can not speak for themselves, so the Lorax advocates for them. It resonated with her.

Here is Meghan’s speech:

Good evening, I am extremely humbled and grateful to be standing before you tonight.

When I was 7 I never thought my life would turn out this way. I never thought I’d be accepting a prestigious humanitarian award. When I was 8 and my life was turned upside down by a diagnosis I didn’t understand, I was in shock. By the time I was nine, I realized that no one even knew what my disease was. Then I realized that if I didn’t do something, there was a chance no one else ever would.

Cowden’s Syndrome is a mutation on the PTEN Gene, a tumor suppressor gene. Because of this disorder I have extremely high cancer risks, and grow a lot of tumors. I am in the hospital being poked and prodded on a regular basis. I am constantly scanned and monitored. Every time I step into a doctor’s office I am holding my breath, praying that I will get even just two more months of peace, without a procedure. I am 15, and I have had 18 surgeries. This disease has tried to break me over, and over again. And, because of this, with each passing day I become more determined to overcome these challenges, win my daily battles, and lend a helping hand to others in need.

I am living the life of a rare disease patient. I am closely acquainted with the downfalls and struggles of my disease, and others. Because of this, I am fully cognizant that there is very little awareness about rare genetic disorders. Some of these disorders are fatal, and others can just make your daily life torturous.

My disorder specifically is sometimes classified as an “invisible illness.’ No one sees my scars and my struggles because I don’t ‘look sick.’ I present as a healthy and intelligent teenager. When I was little I used to wish all my scars were able to be seen, and that they were all over my skin. I thought that maybe people would start understanding what patients like me go through a bit more if they saw some of the ramifications of these diseases.

Cowden’s Syndrome has not just impacted my body. There are undeniable, severe mental ramifications that have come with my struggles. I have a depressive disorder, an anxiety disorder, and PTSD secondary to medical trauma. In no way am I even close to normal. I have to fight ten times harder for what someone else can do physically. I struggle mentally to live a normal live and get past the anxieties that control my daily life.

I have been bullied since elementary school there are some days where I come home, curl up in a ball and cry. It’s really hard to make friends when you’re at the doctor so much, and it’s even harder to deal with teenage drama when you’ve had to act so much older then you are your whole life. Whether it’s been because I’m different and they don’t understand, or because I catch on to things quickly, I always find myself that kid with the target on my back for bullies.

People like to say to ‘not let your hardships define you.’ Personally, I think that’s idealistic and impossible. The events that you have gone through in your life have created who you are. Sometimes I wonder what life would be like if I did not have this rare disease. Then I shake myself out of it, and realize that I’m a pretty cool person who has the ability to change lives. And, that if I didn’t have Cowden’s Syndrome, I wouldn’t be growing into the person I am.

My mother and I host annual fundraisers called “Jeans for Rare Genes.” They started out with all of the profits being donated to the Global Genes Foundation, a 401C3 organization that raises money around the world for the purpose of providing support to patients with rare diseases. Then, the PTEN Foundation, an organization specifically devoted to patients with PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) was born. Once this organization was created, we began fundraising for them. To this day, our annual fundraiser is one of the biggest donations that goes into this organization and I am proud to know that our work is making a difference.

There are less than 2,000 diagnosed Cowden’s Syndrome patients in the US. Sometimes it is hard to see the light at the end of a lonely tunnel. The PTEN Foundation is close to putting up a patient powered registry that will start things moving in the right direction. We have a long way to go. We need funding for research, and then we need medication and hopefully a cure. There is far too little awareness about Cowden’s syndrome and all rare diseases in general. They are very real, and very present in our society.

This honor will serve as a stepping stone for me. My awareness efforts are not nearly done. In fact, I view this as a new chapter in my life, where I will have the confidence and courage, needed to continue raising funds and awareness, and that I may hopefully be a part of changing the lives of other rare disease patients.

In the words of the Lorax in the famous Dr. Seuss book, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”

With the number of people who care in this room tonight, I look forward to a future of hope and promise. Thank you.

The speech ended with Teddy Atlas committing $5,000 to the PTEN Foundation on Meghan’s behalf.

It made me extra glad that Kristin, the PTEN Foundation President, who has become a dear friend, had made her way to New York from Alabama to celebrate with us.

Yesterday, November 15, 2018, NYC was almost totally crippled by an unexpected snow storm. In all of my years here I have never ever seen anything like it. I have seen worse storms, but NEVER the crippling state of things I saw yesterday. I left work to get Meghan at school at 2:20. On a busy day it takes me 22 minutes to arrive at her school for pick up. At 4:10, after crawling for HOURS and getting so close, I was being pushed up a hill out of a pile of snow. I was in such a state, feeling frantic that I was literally not able to get to her. And even though I knew she was safe, it was a helpless feeling I’m not looking to duplicate any time soon.

November 15, 2018

At 4:15 she sat in my car while we turned around to head back. At 5:35 the 8 mile round trip was complete, but we weren’t out of trouble. Three hours on the road and I never saw a plow or a salt truck.

My parents agreed to drive in their very capable pick up truck. My husband made it safely off the bus from Manhattan. It was far from the poised and put together departure I had hoped for, but we got there.

I’m not going to lie, there were a few moments there where I thought, “WHAT THE HECK? Why does EVERYTHING have to be surrounded by drama?”

But I pulled myself together. There are far bigger problems in the world. We made it. We were safe. We were together. Meghan’s dear friend greeted us there. I looked around and soaked up the enormity of the honor my 15 year old was receiving.

I looked around the room full of energetic, generous spirits.

I looked in the booklet on the table and found this. Despite a few minor errors, the idea that this was published here. Now. For everyone. Well, it kind of blew me away.

I listened while Ciaran Sheehan sang, with chills down my spine. Having played leading roles in two of Meghan’s favorite Broadway shows, “Les Miserables,” and “Phantom of the Opera,” he was the one she wanted to meet. And she did.

My girl is not perfect. She struggles. We argue. She sometimes acts like a teenage girl and I have to remind myself she is one. She is intense. She is focused. She is determined. She is deeply principled.

She is learning to find balance. She is learning to laugh. She is learning to pause. To believe. She is letting herself be successful. She is working daily on becoming the best version of herself. She is my hero.

And Meghan, as one of the “trees,” I am happy to have a “Lorax” like you.

Because as Dr. Seuss said, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”

You are way more than

#beatingcowdens

You’re going places kid. And I’m so grateful to be along for the ride.

I’m aware of Breast Cancer. As a survivor now of 6 years and the daughter of a 21 year survivor, I am aware as I dry from my shower facing my mastectomy scars every morning, that breast cancer is reality. As my Facebook feed and my memory are both too full of those we have lost and those who still face this disease, we are aware. What I wonder, is how much help is the awareness? It is a topic that could be debated forever, but I’ll change gears first.

Something else I am very aware of is the PTEN gene located on chromosome 10q23, and the perils its associated mutations can cause. So when the PTEN Foundation let us know that 10/23 was designated PTEN Awareness Day, we were all in.

This blog has, for years been designated to the ups and downs of this mother- daughter duo dealing with Cowden’s Syndrome, the diagnosis we both received in late 2011 after a PTEN mutation was first diagnosed in Meghan, and weeks later in me.

The few years following were an absolute whirlwind of appointments, scans, screenings and surgeries. We worked to keep our heads above water and just exist. We considered keeping my job, and maintaining honors status in her school quite the accomplishment.

We were told things over and over, like “don’t let it define you…”

I’ve got some news for you. You can only walk so far into the fire without retaining the scars.

True awareness of PTEN for us comes with comprehension of the gravity that you have to remain in a vigilant stance of preparation, awaiting attack from your own body at all times. PTEN patients have ridiculous cancer risks pretty much all throughout, and the VIGILANCE required to stay ahead is utterly grueling.

We are faced with choices to keep the most high risk organs, or remove them prophylactic ally. We are asked to play the odds. With our bodies. All the time.

With Meghan the AVM (Arteriovenous Malformation) in her right knee, though quiet now, has caused damage she will deal with forever. She is 15. God willing she will walk on those legs another 80 years, each day aware of the pain, and of the symmetry removed from her body forever.

When you have to be vigilant, you have to plan. There are trades. You have to decide if you’ll miss school with friends and fall behind in classes or give up the breaks designed to recharge you.

There are no breaks. February – months away has 3/5 of its break and 2 other days devoted to appointments. Martin Luther King Jr. Day in January. Yep – that one too. Don’t worry, the brain MRI is scheduled for April break….

You have to pick and choose. And the decisions are hard. You want to give it all to everything, but HOURS of your world are wasted in bumper to bumper traffic, waiting for the hopeful news that you have another 6 months before you come back. And if, in fact you don’t get that news the schedule is tossed and it’s game on for scans, analysis and biopsies.

The pain. No one can really tell us yet from why, but it seems to exist throughout. The fatigue. Maybe the thyroid issues, maybe some immunological stuff. Maybe some connection yet to be determined. But it’s real.

It’s as real as the number of times we had to decline invitations before most people stopped asking.

We’re not blowing you off. We’re holding it together – by a shoestring.

Chronic Illness is hard to live, and we get that it’s difficult to watch. But, it’s real. And short of a cure, it will never “run it’s course.” It will not BE us, but it will be PART of us – FOREVER.

“You don’t look sick…”

“You don’t look anxious…”

No, as a matter of fact she looks strong and determined. She’s been practicing for quite some time.

Sometimes I have to bite my tongue to keep from replying, “You don’t LOOK ignorant either – but at least you can fix that if you WANT to…”

Our rare disease journey has opened our eyes to not only PTEN disorders, but “Lhermitte-Duclos disease,” “Nail-Patella Syndrome,” “Lynch Syndrome,” “Spinal Muscular Atrophy,” “Muscular Dystrophy,” “Neimann- Pic Disease,” ” Neurofibromatosis,” “Acute Myeloid Leukemia” to name just the very tip of the iceberg. I am more aware than every that everyone struggles.

I’m also a big fan of real pure awareness, for the sake of learning something about other humans I share the planet with.

One of the humans I share my home with has grown up in a totally different direction courtesy of this disease. And while I am grateful for her diagnosis, as it surely saved my own life, I am sad that she has had to see so much, and manage so much already in her life.

So today, on 10/23, if you’re not living with it yourself, direct yourself to http://www.PTENFoundation.org, or the PTEN Facebook Page and learn an little more about PTEN.

My own girl is working every day to make herself better, physically, mentally and emotionally. When I have down days, or I just don’t feel well, she reminds me to forgive myself. “You have it too Mom.” Indeed I do, and it’s quite a ride…

“Prep for the Climb” Disney’s Hollywood Studios

Together we prepare for the climb each day – and seek out that ‘One Perfect Moment’

For as much as this disease has taken, I am grateful that she is starting to take back control, and is finding her voice as an advocate for herself and others. (And I love listening to her sing too…)

#Beatingcowdens

Bring It On the Musical – One Perfect Moment Lyrics

2012 Broadway
Bring It On the Musical – One Perfect Moment LyricsI’m not freaking out, I’m really okay
I’m totally chill or I will be someday
‘Cause I’m so near the top but there’s so many mountains to climb
There are plans to be planned, drills to be drilled
‘Cause this dream that I’ve dreamed is becoming fulfilled
And I plan to enjoy it but right now, I don’t have the timeFade in on Campbell, an average teenager almost grown
Close-up on average grades from the average life she’s known
Now zoom in the lens on the rest of her friends as she stay alone
Doing the work, getting it right

‘Cause I know we’ll have to be practically perfect
So I’ll go above and beyond and pull through, this I can do
All that I’m asking is one perfect moment in time

I’m seventeen, there are so many things that I can’t control
If I start to freak, or feel weak, I focus on just one goal
Turn down the panic, attack this routine like it owns my soul
Turn up the music so loud that it swallows us whole
And then there we are, we burn like a star
We’re safe inside the world we know
Then suddenly I’m in prep for the climb and here I go
High in the air, there is a moment just before you start to fall
Live in that one moment

I know that if I can just stick the landing
Then I’ll know that somehow my life will be fine
And I’ll go through the rest of my life understanding
What it feels like to shine
The future’s full of mysteries
So please let this be mine
My one perfect moment in time